786037006: Familial isolated hyperparathyroidism (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hyperparathyroidism\Primary hyperparathyroidism\Familial hyperparathyroidism\Familial isolated hyperparathyroidism (disorder)

\Functional finding\Increased hormone secretion\Hyperparathyroidism\Primary hyperparathyroidism\Familial hyperparathyroidism\Familial isolated hyperparathyroidism (disorder)

\Endocrine finding\Increased hormone secretion\Hyperparathyroidism\Primary hyperparathyroidism\Familial hyperparathyroidism\Familial isolated hyperparathyroidism (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial isolated hyperparathyroidism (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal dominant hereditary disorder\Familial isolated hyperparathyroidism (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Familial isolated hyperparathyroidism (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Familial isolated hyperparathyroidism (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of parathyroid gland (disorder)\Hyperparathyroidism\Primary hyperparathyroidism\Familial hyperparathyroidism\Familial isolated hyperparathyroidism (disorder)
\Disease\Disorder of neck (disorder)\Disorder of parathyroid gland (disorder)\Hyperparathyroidism\Primary hyperparathyroidism\Familial hyperparathyroidism\Familial isolated hyperparathyroidism (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3770071010 Familial isolated hyperparathyroidism (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3770072015 Familial isolated hyperparathyroidism en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3770073013 FIHPT - familial isolated hyperparathyroidism en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3770074019 A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

3770075018 A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4353981000052116 familjär isolerad hyperparatyreoidism sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Familial isolated hyperparathyroidism (disorder)	Interprets	Hormone secretion	true	Inferred relationship	Some	1
Familial isolated hyperparathyroidism (disorder)	Is a	Autosomal dominant hereditary disorder	true	Inferred relationship	Some
Familial isolated hyperparathyroidism (disorder)	Is a	Familial hyperparathyroidism	true	Inferred relationship	Some
Familial isolated hyperparathyroidism (disorder)	Has interpretation	Increased	true	Inferred relationship	Some	1
Familial isolated hyperparathyroidism (disorder)	Is a	Hereditary disorder by system	false	Inferred relationship	Some
Familial isolated hyperparathyroidism (disorder)	Finding site	Parathyroid structure	true	Inferred relationship	Some	2
Familial isolated hyperparathyroidism (disorder)	Due to	Neoplasm of parathyroid gland	true	Inferred relationship	Some	3
Familial isolated hyperparathyroidism (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3770071010	Familial isolated hyperparathyroidism (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3770072015	Familial isolated hyperparathyroidism	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3770073013	FIHPT - familial isolated hyperparathyroidism	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3770074019	A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumours in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumours and/or systemic manifestations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3770075018	A rare hereditary familial primary hyperparathyroidism disease with characteristics of primary hyperparathyroidism due to single or multiple parathyroid tumors in at least two first-degree relatives in the absence of evidence of other endocrine disorders, tumors and/or systemic manifestations.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4353981000052116	familjär isolerad hyperparatyreoidism	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)